A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518440



Internal ID294828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46735023..46735746hg38UCSC Ensembl
chr19:47238280..47239003hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723685
Samples
Known GenesSTRN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518440
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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